P066 Orthopedic complications of osteogenesis imperfecta

Rheumatology ◽  
2021 ◽  
Vol 60 (Supplement_5) ◽  
Author(s):  
Blel Ferdaous ◽  
Hachfi Haifa ◽  
Brahem Mouna ◽  
Mouhamed Younes
Keyword(s):  
Osteogenesis Imperfecta ◽  
Connective Tissue Disorder ◽  
Bone Fragility ◽  
Vitamin D Supplementation ◽  
Lower Limbs ◽  
Mineral Density ◽  
Vertebral Disc ◽  
Skeletal Complications ◽  
Intravenous Bisphosphonates

Abstract Background Osteogenesis imperfecta (OI) is an inherited connective tissue disorder including various skeletal manifestations. Bone fragility, vertebral body malformation and length lower limbs inequality are often responsible for orthopedic complications. The aim of our study was to determine orthopedic complications of OI and to specify management modalities in rheumatology. Methods We conduct a retrospective study based on the files of children referred to the rheumatology departement over the last 15 years, for treatment of OI. The evaluation was clinical and radiological. Clinical examination included joint and spine assessment. An X-ray of the spine and painful joints associated with a quantitative densitometry were requested. Results Five patients were collected, their mean age was 9 years. All patients had peripheral fracture. Joint assessment revealed a flessum of the elbow and a reduction of the motion of hip in 40% of cases. Scoliosis was noted also in 40% of cases. The average of spine Z –score was -3, 4. All children had benefited from oral calcium and vitamin D supplementation associated with cyclic intravenous bisphosphonates and an adapted rehabilitation protocol. Surgical management was often needed in 2 cases. Discussion and Conclusion Orthopedic complications during OI are essentially the consequence of lower bone mineral density which would cause peripheral or vertebral fracture. Indeed, some other factors like length inequality, pelvic obliquity, ligamentous laxity and inter-vertebral disc abnormalities could be involved in scoliotic progression. The management of these skeletal complications must be early and multidisciplinary in order to improve the prognosis and the quality of life of the patient

A RARE CASE OF OSTEOGENESIS IMPERFECTA TYPE I

2021 ◽  
pp. 53-54
Author(s):  
P.C. Prince ◽  
Sunil Malhotra ◽  
Mahendra Meena ◽  
Sandeep Singh
Keyword(s):  
Osteogenesis Imperfecta ◽  
Rare Case ◽  
Lower Limbs ◽  
Type I ◽  
Osteogenesis Imperfecta Type ◽  
Mineral Density ◽  
The Past ◽  
Blue Sclera ◽  
Osteogenesis Imperfecta Type I

A 7 year old female patient was admitted to hospital having experienced bowing of upper and lower limbs, repeated fractures over the past 4 years. Clinical ndings and radiological investigations such as recurrent fractures and deformity of bones while bearing weight, blue sclera and low bone mineral density, all led us to conclude that this child has a mild form of osteogenesis imperfecta type I. The patient was immediately started on calcium (1000mg/day), vitamin D (800mg/day) and pamidronate (60mg) was given intravenously. Following the above protocol, we found that the quality of life of the patient showed signicant improvement. This patient is a rare case of OI type I.

scholarly journals Combination of osteogenesis imperfecta and type 1 diabetes mellitus

2022 ◽  
Vol 24 (5) ◽  
pp. 470-476
Author(s):  
D. A. Marmalyuk ◽  
G. E. Runova ◽  
S. E. Moshenina ◽  
M. P. Shapka ◽  
V. V. Fadeyev
Keyword(s):  
Diabetes Mellitus ◽  
Type 1 Diabetes ◽  
Osteogenesis Imperfecta ◽  
Type 1 Diabetes Mellitus ◽  
Connective Tissue Disorder ◽  
Joint Hypermobility ◽  
Mineral Density ◽  
Skeletal Deformity

Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder accompanied by increased bone fragility. Five types of OI are distinguished on the basis of phenotypic manifestations. OI type 1 is characterized by a reduced amount of normal type 1 collagen and is the mildest form. In addition to the fractures, course of disease can be accompanied by short stature, skeletal deformity and joint hypermobility. Although fracture risk decreases with age, such patients needs regular follow-up with an assessment of bone mineral density (BMD) and, if necessary, correction of therapy to improve the quality of life. Type 1 diabetes mellitus (T1DM) is associated with a decreased BMD, which is mostly attributed to insulin deficiency and hyperglycemia, which also increase the risk of fractures. Achieving and stable maintenance of glycemic targets is often challenging, but it is necessary to exclude hyperglycemia as a factor that further worsens the quality of bone. This paper describes a clinical case of an extremely rare combination of type 1 OI and T1DM, two diseases with a pronounced negative effect on bone tissue. The combination of these pathologies requires special management tactics for such patients to reduce the risk of developing new fractures.

A CLINICAL STUDY TO EVALUATE THE EFFECT OF ELEG FEM CAPSULES (ASTHISHRINKHALAADI YOGA) IN THE MANAGEMENT OF OSTEOPOROSIS

2021 ◽  
pp. 62-63
Author(s):  
Neha Thakur ◽  
B.L. Mehra ◽  
Sunil Thakur ◽  
Anil Bhardwaj
Keyword(s):  
Quality Of Life ◽  
Clinical Study ◽  
Osteoporotic Fractures ◽  
Bone Fragility ◽  
Drop Out ◽  
Mineral Density ◽  
Life Index ◽  
T Score ◽  
Quality Of Life Index

Osteoporosis is an alarming issue in the society today. It is continuously increasing its signicance with increasing elderly population and is affecting both the sexes at different degrees. It is characterized by low bone mass with microarchitectural deterioration of bone leading to enhanced bone fragility, thus increasing the susceptibility to fracture. Taking into account the references available in various Ayurvedic classics it can be correlated to Asthikshaya. Asthikshaya occurs due to decrease in strength of Asthi Dhatu chiey due to Kala, Swabhava and Vata Prakopa. International Osteoporosis Foundation estimated that the annual direct cost of treating osteoporotic fractures has increased grossly. In India the general population is not much aware about the hazardous complications of osteoporosis. The modern pharmacological treatment is long and beyond the nancial reach of common people. Therefore the best way to deal with it is to prevent this as early as possible. To achieve this aim a clinical study was conducted to evaluate the effect of an Ayurvedic Formulation known as Eleg Fem capsules (Asthishrinkhalaadi Yoga) in osteoporotic patients. In the clinical trial 30 patients above the age of 40 years with low BMD T-Score were registered from OPD and IPD of Kayachikitsa department of Rajiv Gandhi Govt. Post Graduate Ayurvedic College and Hospital Paprola, Kangra. Out of 30 patients, 27 completed the trial and 3 patients were drop out. Criteria of assessment of patients was change in bone mineral density (BMD T- Score) and change in the score of Quality of Life Index Questionnaire for Osteoporosis (QUALEFFO-41). All the registered patients were given the formulation for 6 weeks. Improvement was observed with statistically signicant results on mean BMD TScore and moderately signicant result on Quality of Life Index scoring. The study revealed that the Eleg Fem capsules (Asthishrinkhalaadi Yoga) is a safe and effective therapy in the Osteoporotic patients.

scholarly journals Association of vitamin D and osteocalcin levels in post-menopausal women with osteoporosis

2017 ◽  
Vol 6 (4) ◽  
pp. 1244
Author(s):  
Yogiraj Vaijanathrao Chidre ◽  
Amir Babansab Shaikh
Keyword(s):  
Vitamin D ◽  
Parathyroid Hormone ◽  
Vitamin D Deficiency ◽  
Fragility Fractures ◽  
Bone Fragility ◽  
Vitamin D Supplementation ◽  
Mineral Density ◽  
Age Related ◽  
Calcium Phosphorus ◽  
Post Menopausal

Background: Osteoporosis is a common age related problem especially in women, with a consequent increase in bone fragility and susceptibility to fracture. Apart from Calcium, another nutrient that plays an important role in the mineralization of skeleton in Vitamin D. Osteocalcin, which is produced primarily by osteoblasts during bone formation, is considered to be one of the markers for osteoporosis.Methods: 314 women above the age of 40 were included into the study. A thorough physical and clinical examination, assessment of vital parameters, anthropometry evaluation was done for all patients. Bone mineral density was calculated using central DXA osteodensitometer at lumbar spine L1-L4, hip and ultradistal radius (in some cases.). Blood samples were taken for the detection of ionized calcium, phosphorus, alkaline phosphatase, 25hydroxivitamin D (25 ODH) and serum parathyroid hormone (PTH) by chemiluminiscent assay. Bone markers such as osteocalcin were measured as required.Results: Out of the 314 women attending our OPD, 96 of them were diagnosed as having osteoporosis. 24 out of them had fragility fractures, mainly of the hip, and 82 had ostepenia. Elevated levels of calcium (8.96 mg/dl), parathyroid hormone (58.76 pg/ml) and osteocalcin (24.46 ng/ml) were observed. Vitamin D deficiency of ≤ 20 was seen in 59 (63%) of the cases, insufficient in 23 (24%) and only 12 (13%) of these women had normal Vitamin D levels.Conclusions: Osteocalcin is a promising marker for the detection of osteoporosis. There is a considerable Vitamin D deficiency among the women with osteoporosis, and it is under-treated. It is essential to provide Vitamin D supplementation to these women especially those who are at high risk for fragility fractures.

A Review on The Complications and Management of Osteoporosis

2021 ◽  
Vol 12 (4) ◽  
pp. 2345-2349
Author(s):  
Mohsin Aijaz Soomro ◽  
Raheel Akbar Baloch ◽  
Najeeb ur Rehman ◽  
Niaz Hussain Keerio ◽  
Muhammad Faraz Jokhio ◽  
...  
Keyword(s):  
Lifestyle Modification ◽  
Bone Fragility ◽  
Diagnostic Methods ◽  
Mineral Density ◽  
Pharmacological Interventions ◽  
Global Epidemic ◽  
Calcium Supplements ◽  
Skeletal Disease ◽  
The Individual

Osteoporosis is a skeletal disease that is characterized by low bone mineral density. It also disrupts the microarchitectural of the bone. In leads to increased bone fragility and risk of fractures. Even while it occurs in persons of various ages and ethnicities (including Caucasians and whites), it is more common among Caucasians (whites), elderly people, and women. Osteoporosis is becoming a global epidemic as the world's population ages and lives longer. Osteoporosis affects an estimated 200 million individuals worldwide. It affects a 3rd of women and one in every 12 men. This increases morbidity as well as mortality due to several complications. Moreover, It also reduces the patient's quality of life, lengthens their life expectancy when they are disabled, and places a heavy financial load on the health insurance systems of countries that are responsible for their care. Thus, it is essential to improve diagnostic methods and to introduce early intervention to prevent this disease. Lifestyle modification is an important recommendation for the population at risk. There are several pharmacological interventions that could be taken to prevent osteoporosis as vitamin D and calcium supplements and to treat osteoporosis as bisphosphonates and anabolic drugs. The most important step in the treatment is tailored to the individual patients and to optimize the treatment according to each case individually. Therefore, increasing doctor awareness, which promotes improved awareness among the general public, will be useful in averting this epidemic. 

scholarly journals Osteogenesis imperfecta: a case report

2014 ◽  
Vol 43 (1) ◽  
pp. 30-32
Author(s):  
Ratu Rumana Binte Rahman ◽  
Shamasunnahar Begum
Keyword(s):  
Osteogenesis Imperfecta ◽  
Pulmonary Hypoplasia ◽  
Bone Fragility ◽  
Lower Limbs ◽  
Inherited Disease ◽  
Multiple Fractures ◽  
X Ray ◽  
Medical College ◽  
Minimal Trauma ◽  
Hallmark Feature

Osteogenesis Imperfecta is a inherited disease of connective tissue. Its hallmark feature is bone fragility with a tendency to fracture from minimal trauma or from the work of bearing weight against gravity. The disorder may occur in one out of 20,000 to one out of 60,000 live births, affecting both male and female of all races. We present a 38 year lady who gave birth to baby with osteogenesis imperfecta in Sir Salimullah Medical College & Mitford Hospital, Dhaka. Both lower limbs appeared shortened with thick musculo-cutaneous folds. Both the femoral shafts were shortened, deformed and fragmented. Both the humeral and fibular shafts were deformed and the presentation was breech. Her sclerae was blue. X-ray showed multiple fractures in humerus, femur and ribs and also right sided pulmonary hypoplasia. DOI: http://dx.doi.org/10.3329/bmj.v43i1.21376 Bangladesh Med J. 2014 January; 43 (1): 30-32

scholarly journals Bilateral Looser zones or pseudofractures in the anteromedial tibia as a component of medial tibial stress syndrome in athletes

2020 ◽  
Author(s):  
Julian Stürznickel ◽  
Nico Maximilian Jandl ◽  
Maximilian M. Delsmann ◽  
Emil von Vopelius ◽  
Florian Barvencik ◽  
...  
Keyword(s):  
Vitamin D ◽  
Bone Turnover ◽  
High Stress ◽  
Vitamin D Supplementation ◽  
Lower Limbs ◽  
Medial Tibial Stress Syndrome ◽  
Mineral Density ◽  
Stress Syndrome ◽  
Vitamin D Levels ◽  
Common Diagnosis

Abstract Purpose Medial tibial stress syndrome (MTSS) represents a common diagnosis in individuals exposed to repetitive high-stress loads affecting the lower limb, e.g., high-performance athletes. However, the diagnostic approach and therapeutic regimens are not well established. Methods Nine patients, diagnosed as MTSS, were analyzed by a comprehensive skeletal analysis including laboratory bone turnover parameters, dual-energy X-Ray absorptiometry (DXA), and high-resolution peripheral quantitative computed tomography (HR-pQCT). Results In 4/9 patients, bilateral pseudofractures were detected in the mid-shaft tibia. These patients had significantly lower levels of 25-hydroxycholecalciferol compared to patients with MTSS but similar levels of bone turnover parameters. Interestingly, the skeletal assessment revealed significantly higher bone mineral density (BMD) Z-scores at the hip (1.3 ± 0.6 vs. − 0.7 ± 0.5, p = 0.013) in patients with pseudofractures and a trend towards higher bone microarchitecture parameters measured by HR-pQCT at the distal tibia. Vitamin D supplementation restored the calcium-homeostasis in all patients. Combined with weight-bearing as tolerated, pseudofractures healed in all patients and return to competition was achieved. Conclusion In conclusion, deficient vitamin D levels may lead to pseudofractures due to localized deterioration of mineralization, representing a pivotal component of MTSS in athletes with increased repetitive mechanical loading of the lower limbs. Moreover, the manifestation of pseudofractures is not a consequence of an altered BMD nor microarchitecture but appears in patients with exercise-induced BMD increase in combination with reduced 25-OH-D levels. The screening of MTSS patients for pseudofractures is crucial for the initiation of an appropriate treatment such as vitamin D supplementation to prevent a prolonged course of healing or recurrence. Level of evidence III.

A OSTEOPOROSE PODE AGRAVAR A DOENÇA PERIODONTAL?: UMA REVISÃO DE LITERATURA

2015 ◽  
Vol 6 (2) ◽  
Author(s):  
Roberta Catapano Naves ◽  
Tainá Bulhões ◽  
Leonardo Costa ◽  
Monica Dourado Barbosa ◽  
Susyane Almeida
Keyword(s):  
Public Health ◽  
Quality Of Life ◽  
Alveolar Bone ◽  
Population Aging ◽  
Systemic Disease ◽  
Bone Fragility ◽  
Present Knowledge ◽  
Long Bones ◽  
Mineral Density

With the population aging, the chronic diseases related to the seniors, as the osteoporosis, increased generating a problem of public health that affects the quality of life of the population directly. The osteoporosis is a systemic disease that causes the mineral unbalance of the bones causing bone fragility and increase in the probability of fractures. Besides the long bones, it can attack the alveolar processes of the jawbone and of the jaw, could worsen the disease periodontal and to take to the dental loss. The objective of this work is to approach, through a revision of the literature, the present knowledge about the possible influence of the osteoporosis in the periodontal disease and in the levels of the alveolar bone mineral density.

scholarly journals Fatigue in adults with Osteogenesis Imperfecta

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Arjan G. J. Harsevoort ◽  
Koert Gooijer ◽  
Fleur S. van Dijk ◽  
Daniëlle A. F. M. van der Grijn ◽  
Anton A. M. Franken ◽  
...  
Keyword(s):  
Quality Of Life ◽  
The Netherlands ◽  
Osteogenesis Imperfecta ◽  
Functional Ability ◽  
Normal Population ◽  
Bone Fragility ◽  
Mobile Phone Application ◽  
The Mean ◽  
Blue Sclerae

Abstract Background Osteogenesis Imperfecta (OI) is characterized by bone fragility, and features such as blue sclerae, dentinogenesis imperfecta, hearing loss, ligamentous laxity and short stature can be present. It has long been assumed that the functional ability and quality of life of patients with OI depends primarily on the severity of skeletal deformities. However, fatigue is often mentioned in clinic by patients with all types of OI as an important modifier of their quality of life and does not always seem to be related to their functional ability. The aim of this study is to investigate whether adults with Osteogenesis Imperfecta are significantly more fatigued than the normal population. Methods The Fatigue Severity Scale (FSS) was distributed by mobile phone application among 151 adult patients with different OI types. Results of the FSS in the OI group were compared with two control populations from America (n = 20) and the Netherlands (n = 113). Results Ninety-nine patients (OI type 1 (n = 72), OI type 3 (n = 13), OI type 4 (n = 14) completed the FSS questionnaire. The mean FSS score of this cohort was 4.4 and significantly higher than the control populations (2.3/2.9). 65% of our cohort reported at least moderate fatigue compared with 2 control populations from America and the Netherlands. Conclusion Fatigue in patients with OI is a frequently encountered problem in our expert clinic but research into this topic is sparse. This pilot study is the largest study to date investigating fatigue in patients with OI and results have been compared with two control groups. The mean FSS score of 4.4 in the OI group indicates that people with OI are generally significantly more fatigued than the control population. Further evaluation of fatigue and its influencers in a larger group of OI patients is important for future management.

scholarly journals Approach to the Child with Fractures

2011 ◽  
Vol 96 (7) ◽  
pp. 1943-1952 ◽  
Author(s):  
Alison M. Boyce ◽  
Rachel I. Gafni
Keyword(s):  
Weight Bearing ◽  
Safety Data ◽  
Initial Step ◽  
Bone Fragility ◽  
Dual Energy ◽  
Vitamin D Supplementation ◽  
Close Monitoring ◽  
Mineral Density ◽  
X Ray

Abstract Evaluation of the child with fractures is challenging, as no clear guidelines exist to distinguish traumatic from pathological fractures. Although most fractures in childhood are benign, recurrent fractures may be associated with a wide variety of primary skeletal diseases as well as secondary causes, necessitating a careful history and physical exam to guide the evaluation. There is no “gold standard” for the evaluation and treatment of children with fractures and low bone mineral density (BMD); therefore, the diagnosis of osteoporosis in a pediatric patient should be made using a combination of clinical and radiographic features. Interpretation of bone densitometry in growing patients presents a unique set of challenges because areal BMD measured by dual-energy x-ray absorptiometry depends on multiple dynamic variables. Interpretation of pediatric dual-energy x-ray absorptiometry should be based on Z-scores (sd scores compared to age, sex, and ethnicity-matched controls), using normative databases specific to the brand of densitometer and the patient population. Given the skeleton's ability to recover from low BMD through modeling and remodeling, optimizing management of underlying conditions leading to bone fragility is the initial step. Conservative measures including calcium and vitamin D supplementation and weight-bearing physical activity are important interventions that should not be overlooked. The use of bisphosphonates in children and adolescents is controversial due to lack of long-term efficacy and safety data and should be limited to clinical trials and compassionate therapy in children with significantly compromised quality of life. Close monitoring is required, and further study is necessary to assess their long-term safety and efficacy in children.

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